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Mutation rate

Charles D Warne, Sophie G Zaloumis, Nadine A Bertalli, Martin B Delatycki, Amanda J Nicoll, Christine E McLaren, John L Hopper, Graham G Giles, Greg J Anderson, John K Olynyk, Lawrie W Powell, Katrina J Allen, Lyle C Gurrin
BACKGROUND AND AIM: Women who are homozygous for the p.C282Y mutation in the HFE gene are at much lower risk of iron overload-related disease than p.C282Y homozygous men, presumably due to the iron-depleting effects of menstruation and pregnancy. We used data from a population cohort study to model the impact of menstruation cessation at menopause on serum ferritin (SF) levels in female p.C282Y homozygotes, with p.C282Y/p.H63D simple or compound heterozygotes and those with neither p...
October 26, 2016: Journal of Gastroenterology and Hepatology
Jennifer Hochheim, Angela Kranz, Karin Krumbach, Sascha Sokolowsky, Lothar Eggeling, Stephan Noack, Marco Bocola, Michael Bott, Jan Marienhagen
OBJECTIVES: To explore systemic effects of mutations in the UDP-N-acetylmuramoylalanyl-D-glutamate 2,6-diaminopimelate ligase (MurE) of Corynebacterium glutamicum, that leads to extracellular L-lysine accumulation by this bacterium. RESULTS: The analysis of a mutant cohort of C. glutamicum strains carrying all possible 20 amino acids at position 81 of MurE revealed unexpected effects on cellular properties. With increasing L-lysine accumulation the growth rate of the producing strain is reduced...
October 25, 2016: Biotechnology Letters
Tracy L Stockley, Amit M Oza, Hal K Berman, Natasha B Leighl, Jennifer J Knox, Frances A Shepherd, Eric X Chen, Monika K Krzyzanowska, Neesha Dhani, Anthony M Joshua, Ming-Sound Tsao, Stefano Serra, Blaise Clarke, Michael H Roehrl, Tong Zhang, Mahadeo A Sukhai, Nadia Califaretti, Mateya Trinkaus, Patricia Shaw, Theodorus van der Kwast, Lisa Wang, Carl Virtanen, Raymond H Kim, Albiruni R A Razak, Aaron R Hansen, Celeste Yu, Trevor J Pugh, Suzanne Kamel-Reid, Lillian L Siu, Philippe L Bedard
BACKGROUND: The clinical utility of molecular profiling of tumor tissue to guide treatment of patients with advanced solid tumors is unknown. Our objectives were to evaluate the frequency of genomic alterations, clinical "actionability" of somatic variants, enrollment in mutation-targeted or other clinical trials, and outcome of molecular profiling for advanced solid tumor patients at the Princess Margaret Cancer Centre (PM). METHODS: Patients with advanced solid tumors aged ≥18 years, good performance status, and archival tumor tissue available were prospectively consented...
October 25, 2016: Genome Medicine
Meiling Jin, Yuansheng Xie, Zhiqiang Chen, Yujie Liao, Zuoxiang Li, Panpan Hu, Yan Qi, Zhiwei Yin, Qinggang Li, Ping Fu, Xiangmei Chen
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-generation sequencing platform. Among 148 ADPKD patients enrolled, 108 mutations were detected in 127 patients (85.8%)...
October 26, 2016: Scientific Reports
Patrick D Slaine, James G Ackford, Andrew M Kropinski, Robert A Kozak, Peter J Krell, Éva Nagy
Fowl aviadenoviruses, many of which are of importance in veterinary medicine, are classified into 5 species. In this study, a pathogenic isolate and a nonpathogenic isolate of fowl aviadenovirus serotype 11 (FAdV-11) of species Fowl aviadenovirus D were characterized. Growth rates were analyzed for the 2 isolates, showing notable differences. The complete genomic sequences of the viruses were fully determined and were analyzed. The genomes of the 2 isolates showed 98.1% sequence identity and revealed 6 nonsynonymous mutations between the Ontario isolates...
July 12, 2016: Canadian Journal of Microbiology
Xiao-Jun Xu, Hong-Sheng Wang, Xiu-Li Ju, Pei-Fang Xiao, Yan Xiao, Hong-Man Xue, Hong-Yu Shi, Yi-Jin Gao, Guo-Cun Jia, Xue-Rong Li, Wei-Hong Zhao, Ning-Ling Wang, Yong-Min Tang
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous disease with major diagnostic and therapeutic difficulties. A large-scale multicenter study of pediatric HLH is still lacking in China. PROCEDURE: The Histiocytosis Study Group of the Chinese Pediatric Society conducted this retrospective study in 2014. A total of 323 patients diagnosed with HLH between 2011 and 2013 from 12 hospitals were registered. RESULTS: The median age at diagnosis was 2...
October 26, 2016: Pediatric Blood & Cancer
Carlo Furlan, Vincenzo Canzonieri, Michele Spina, Mariagrazia Michieli, Anna Ermacora, Roberta Maestro, Sara Piccinin, Riccardo Bomben, Michele Dal Bo, Marco Trovo, Valter Gattei, Umberto Tirelli, Giovanni Franchin, Pietro Bulian
Low-dose radiotherapy (LDRT) given in 2 × 2 Gy is a highly effective and safe treatment for palliation of indolent lymphomas. Otherwise, very little regarding the use of LDRT for diffuse large B-cell lymphoma (DLBCL) has been investigated. We designed a phase 2 trial of LDRT in patients with DLBCL with indication for palliative radiation. Low-dose radiotherapy was administered on symptomatic areas only. Clinical response was assessed 21 days after LDRT and defined as reduction >50% of maximum diameter of the radiated lesions...
October 25, 2016: Hematological Oncology
Shihao Dong, Jingsong Chen
Serrated polyposis syndrome (SPS) is closely associated with the initiation and development of colorectal cancer (CRC), however, there is few research on SPS in China. Serrated polyps can be divided into hyperplastic polyps, sessile serrated polyps and traditional serrated polyps. The diagnosis standard of SPS is as following: (1) There are at least 5 serrated lesions in proximal colon, and diameter of more than 2 lesions is >10 mm; (2) The patient has one serrated polyp with family history of SPS; (3) More than 20 serrated polyps can be found in the entire large bowel...
October 25, 2016: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
Matteo Canale, Elisabetta Petracci, Angelo Delmonte, Elisa Chiadini, Claudio Dazzi, Maximilian Papi, Laura Capelli, Claudia Casanova, Nicoletta De Luigi, Marita Mariotti, Alessandro Gamboni, Rita Chiari, Chiara Bennati, Daniele Calistri, Vienna Ludovini, Lucio Crinò, Dino Amadori, Paola Ulivi
PURPOSE: To analyze the impact of TP53 mutations on response to first-line tyrosine kinase inhibitors (TKIs) in patients with epidermal growth factor receptor (EGFR)-mutated non-small cell lung cancer (NSCLC). EXPERIMENTAL DESIGN: 136 EGFR-mutated NSCLC patients receiving first-line TKIs were analyzed. TP53 mutations were evaluated in 123 patients in relation to disease control rate (DCR), objective response rate (ORR), progression-free survival (PFS) and overall survival (OS)...
October 25, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Ann-Lii Cheng, Gerardo Cornelio, Lin Shen, Timothy Price, Tsai-Sheng Yang, Ik Joo Chung, Guang-Hai Dai, Jen-Kou Lin, Atul Sharma, Kun-Huei Yeh, Brigette Ma, Adel Zaatar, Zhongzhen Guan, Nehal Masood, Vichien Srimuninnimit, Thomas Yau, Peter Gibbs, Xiuwen Wang, Dinesh Chandra Doval, Seung-Taek Oh, Byoung Yong Shim, Charity Gorospe, Hwei-Ming Wang, Ekaphop Sirachainan, Andrew Hill, Kwang Wook Suh, Frank Beier, Sudipto Chatterjee, Robert Lim
BACKGROUND: In patients with KRAS wild-type (wt) metastatic colorectal cancer (mCRC), outcomes with first-line chemotherapies are improved by adding weekly cetuximab. The APEC study investigated first-line once-every-2-weeks cetuximab plus chemotherapy for patients with KRAS wt mCRC; additional biomarker subgroups were also analyzed. PATIENTS AND METHODS: APEC was a nonrandomized phase 2 trial conducted in the Asia-Pacific region. Patients (n = 289) received once-every-2-weeks cetuximab with investigator's choice of chemotherapy (FOLFOX or FOLFIRI)...
September 7, 2016: Clinical Colorectal Cancer
Qingping Zhang, Jiarui Li, Ying Zhao, Xinhua Bao, Liping Wei, Jiaping Wang
To investigate the genetic characteristics and clinical features of a cohort of Chinese patients with early-onset epileptic encephalopathies (EOEEs). Targeted next-generation sequencing (NGS), focusing on 17 genes, was performed on 175 Chinese patients with EOEEs to screen gene mutations. The mutation rate was 32% (56/175). All mutations were de novo and heterozygous, including 41 novel and 15 reported mutations. Patients with cyclin-dependent kinase-like 5 (CDKL5) gene mutation accounted for the largest proportion-13...
October 25, 2016: Clinical Genetics
Maximilian Fleischmann, Ulf Schnetzke, Karin G Schrenk, Volker Schmidt, Herbert G Sayer, Inken Hilgendorf, Andreas Hochhaus, Sebastian Scholl
BACKGROUND: Activating mutations of the receptor tyrosine kinase FLT3 (fms-related tyrosine kinase 3) reflect the most frequent molecular aberration in acute myeloid leukemia (AML). In particular, FLT3 internal tandem duplications (FLT3-ITD) are characterized by an unfavorable prognosis and allogeneic stem cell transplantation (allogeneic SCT) in first complete remission is recommended. In case of imminent or frank relapse following allogeneic SCT, treatment with FLT3 tyrosine kinase inhibitors (TKI) constitutes a promising clinical approach to induce hematologic remission without conventional chemotherapy...
October 24, 2016: Journal of Cancer Research and Clinical Oncology
Armando Arias, Lucy Thorne, Elsa Ghurburrun, Dalan Bailey, Ian Goodfellow
Intrahost genetic diversity and replication error rates are intricately linked to RNA virus pathogenesis, with alterations in viral polymerase fidelity typically leading to attenuation during infections in vivo. We have previously shown that norovirus intrahost genetic diversity also influences viral pathogenesis using the murine norovirus model, as increasing viral mutation frequency using a mutagenic nucleoside resulted in clearance of a persistent infection in mice. Given the role of replication fidelity and genetic diversity in pathogenesis, we have now investigated whether polymerase fidelity can also impact virus transmission between susceptible hosts...
September 2016: MSphere
Michael J Wade, Devin M Drown
We use population genetic models to investigate the cooperative and conflicting synergistic fitness effects between genes from the nucleus and the mitochondrion. By varying fitness parameters, we examine the scope for conflict relative to cooperation among genomes and the utility of the "gene's eye view" analytical approach, which is based on the marginal average fitness of specific alleles. Because sexual conflict can maintain polymorphism of mitochondrial haplotypes, we can explore two types of evolutionary conflict (genomic and sexual) with one epistatic model...
September 2016: Ecology and Evolution
Ana Sánchez Azofra, Trilokesh D Kidambi, Rita J Jeremy, Peggy Conrad, Amie Blanco, Megan Myers, James Barkovich, Jonathan P Terdiman
BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary colon cancer syndrome caused by mutations in adenomatous polyposis coli (APC) with both colonic and extra-colonic manifestations. Case reports have noted an association with FAP and intellectual disability and animal studies have shown that APC is implicated in neural development and function, but no studies have investigated neuropsychological, behavioral, or structural brain characteristics of patients with FAP...
2016: Hereditary Cancer in Clinical Practice
Jullien M Flynn, Frédéric J J Chain, Daniel J Schoen, Melania E Cristescu
Understanding the rates, spectra, and fitness effects of spontaneous mutations is fundamental to answering key questions in evolution, molecular biology, disease genetics and conservation biology. To estimate mutation rates and evaluate the effect of selection on new mutations, we propagated mutation accumulation (MA) lines of Daphnia pulex for more than 82 generations and maintained a non-MA population under conditions where selection could act. Both experiments were started with the same obligate asexual progenitor clone...
October 24, 2016: Molecular Biology and Evolution
Hua Wang, Matthew B Schabath, Ying Liu, Ying Han, Qi Li, Robert J Gillies, Zhaoxiang Ye
PURPOSE: To determine if clinical and CT characteristics of surgically resected lung adenocarcinomas can distinguish those harboring ALK rearrangements from EGFR mutations. MATERIALS AND METHODS: Patients who had surgical resection and histologically confirmed lung adenocarcinoma were enrolled, including 41 patients with ALK rearrangements and 66 patients with EGFR mutations. Eighteen categorical and six quantitative CT characteristics were used to evaluate the tumors...
November 2016: European Journal of Radiology
Jianqiang Lian, Lele Dong, Yanjun Zhao, Jinlei Sun, Wenlong Zhang, Chunzheng Gao
BACKGROUND: The Latarjet procedure addresses recurrent anterior shoulder instability in the context of a significant bony defect. However, the bony and soft tissue anatomy of the coracoid in coracoid transfer procedures has not yet been defined in Mongolian men. The aims of this study were to describe the soft tissue attachments of the coracoid regarding the bony anatomy, define the average amount of bone available for coracoid transfer, analyze the characteristics of the pectoralis minor and coracoid, and study the relationship between the bony dimensions of the coracoid and body length in Mongolian men...
October 24, 2016: Journal of Orthopaedic Surgery and Research
Ankit Malik, Deepika Sharma, Qifan Zhu, Rajendra Karki, Clifford S Guy, Peter Vogel, Thirumala-Devi Kanneganti
Inflammatory bowel diseases (IBD) affect over 5 million individuals in the industrialized world, with an increasing incidence rate worldwide. IBD also predisposes affected individuals to development of colorectal cancer, which is a leading cause of cancer-related deaths in adults. Mutations in genes encoding molecules in the IL-33 signaling pathway are associated with colitis and colitis-associated cancer (CAC), but how IL-33 modulates gut homeostasis is unclear. Here, we have shown that Il33-deficient mice are highly susceptible to colitis and CAC...
October 24, 2016: Journal of Clinical Investigation
S Des Roches, R Sollmann, K Calhoun, A Rothstein, E B Rosenblum
Measuring links among genotype, phenotype, and survival in the wild has long been a focus of studies of adaptation. We conducted a four-year capture-recapture study to measure survival by genotype and phenotype in the Southwestern Fence Lizard (Sceloporus cowlesi) at the White Sands ecotone (transition area between white sands and dark soil habitats). We report several unanticipated findings. First, in contrast with previous work showing that cryptic blanched colouration in S. cowlesi from the heart of the dunes is associated with mutations in the melanocortin-1 receptor gene (Mc1r), ecotonal S...
October 24, 2016: Molecular Ecology
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